ClinVar Miner

Submissions for variant NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) (rs543290126)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618377 SCV000736236 uncertain significance Cardiovascular phenotype 2019-04-25 criteria provided, single submitter clinical testing The p.G290V variant (also known as c.869G>T), located in coding exon 11 of the TXNRD2 gene, results from a G to T substitution at nucleotide position 869. The glycine at codon 290 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001053449 SCV001217709 uncertain significance Primary dilated cardiomyopathy 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 290 of the TXNRD2 protein (p.Gly290Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs543290126, ExAC 0.2%). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 518783). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

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